Variant report

Variant	rs55949025
Chromosome Location	chr2:144956164-144956165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144951160..144953736-chr2:144953951..144956370,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57128369	0.88[AFR][1000 genomes]
rs60960157	0.88[AFR][1000 genomes]
rs73964933	0.80[AFR][1000 genomes]
rs73964934	0.88[AFR][1000 genomes]
rs73964935	0.88[AFR][1000 genomes]
rs73964936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964937	0.88[AFR][1000 genomes]
rs73964938	0.80[AFR][1000 genomes]
rs73964939	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144928200-144965400	Weak transcription	Left Ventricle	heart
2	chr2:144931400-144973800	Weak transcription	Ovary	ovary
3	chr2:144932000-144960600	Weak transcription	HSMMtube	muscle
4	chr2:144932000-144965000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:144941600-144964000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:144941600-144965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:144941800-144964800	Weak transcription	Primary B cells from cord blood	blood
8	chr2:144942000-144960800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:144942000-144965600	Weak transcription	Primary T cells from cord blood	blood
10	chr2:144948800-144973600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:144952200-144968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:144952200-144973400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:144952800-144971200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:144953000-144964800	Weak transcription	Fetal Lung	lung
15	chr2:144953600-144971400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:144954200-144964800	Weak transcription	Fetal Stomach	stomach
17	chr2:144954600-144958800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:144954600-144959000	Weak transcription	NHLF	lung
19	chr2:144955400-144956200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:144955400-144956200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:144955400-144956200	Enhancers	Fetal Intestine Small	intestine
22	chr2:144955400-144956200	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:144955400-144956200	Enhancers	HepG2	liver
24	chr2:144955400-144956200	Enhancers	HUVEC	blood vessel
25	chr2:144955400-144956600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:144955400-144956800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:144955400-144956800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:144955600-144956200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:144955600-144956200	Enhancers	Pancreas	Pancrea
30	chr2:144955600-144956200	Enhancers	Small Intestine	intestine
31	chr2:144955600-144956200	Enhancers	HSMM	muscle
32	chr2:144955600-144956200	Enhancers	K562	blood
33	chr2:144955600-144956200	Enhancers	NHEK	skin
34	chr2:144955600-144956400	Enhancers	Stomach Mucosa	stomach
35	chr2:144955800-144956200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:144955800-144956200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:144955800-144956200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:144955800-144956200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:144955800-144956200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:144955800-144956200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:144955800-144956200	Enhancers	A549	lung
42	chr2:144955800-144956200	Enhancers	HMEC	breast
43	chr2:144955800-144956200	Enhancers	NHDF-Ad	bronchial
44	chr2:144955800-144964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:144955800-144969800	Weak transcription	Placenta	Placenta
46	chr2:144955800-144969800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:144955800-144973400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:144955800-144981200	Weak transcription	Fetal Intestine Large	intestine
49	chr2:144956000-144956200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:144956000-144956200	Enhancers	Muscle Satellite Cultured Cells	--

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